Will identifying mutations behind risk of developing schizophrenia help with its treatment?

May 29, 2014 1:09 PM

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Researchers have said that the overall number and nature of mutations – rather than the presence of any single mutation – influences an individual’s risk of developing schizophrenia, as well as its severity. Maria Karayiorgou, MD, professor of psychiatry and Joseph Gogos, MD, PhD, professor of physiology and cellular biophysics and of neuroscience, and their team sequenced the ‘exome’—the region of the human genome that codes for proteins—of 231 schizophrenia patients and their unaffected parents. The researchers compared sequencing data to look for genetic differences and identify new loss-of-function mutations—which are rarer, but have a more severe effect on ordinary gene function—in cases of schizophrenia that had not been inherited from the patients’ parents. They found an excess of such mutations in a variety of genes across different chromosomes.

Using the same sequencing data, the researchers also looked at what types of mutations are commonly passed on to schizophrenia patients from their parents. It turns out that many of these are ‘loss-of-function’ types. These mutations were also found to occur more frequently in genes with a low toler...